Search Results (4)

(1) Background: Darier disease (DD) is a rare autosomal dominant disorder caused by mutations in ATP2A2, a gene that encodes the sarco(endo)plasmic reticulum calcium-ATPase 2 enzyme, which disrupts calcium homeostasis in keratinocytes. Pruritus, a frequently overlooked symptom in DD, can lead to physical and emotional complications, especially in patients with DD who are genetically predisposed to psychiatric comorbidities. (2) Methods: This study aimed to analyze pruritus and other related symptoms in patients with DD and explore their correlation with neuropsychiatric conditions, psychological challenges, disease severity, and body surface area (BSA) involvement through a retrospective review of a tertiary center. (3) Results: Data from 76 patients (equal gender distribution, mean age 44 years) revealed a prevalence of pruritus of 90.8%, surpassing symptoms such as pain (34.3%) and malodor (43.4%). Burning sensations due to DD lesions were significantly correlated with the diagnosis of comorbid neuropsychiatric conditions (p = 0.047) and psychiatric medication use (p = 0.019). While pruritus correlated with disease severity and %BSA involvement, the findings were not statistically significant. Patients reporting pruritus had a significantly higher Dermatology Life Quality Index symptom score (2.4 ± 1.0), which is defined as the presence of itch, soreness, pain, or stinging, than those who did not (1.5 ± 0.6), indicating accurate symptom reporting. (4) Conclusions: In conclusion, a striking majority of patients with DD experience pruritus, with higher prevalence among those with neuropsychiatric challenges, severe Darier disease, and greater %BSA skin involvement. Clinicians should recognize pruritus as a key therapeutic target and adopt comprehensive treatment approaches that both address the neuropsychiatric comorbidities and the added psychological burden of pruritus in patients with DD. Full article

Thrombotic thrombocytopenic purpura (TTP) is a life-threatening, often immune-mediated disease that affects 2–13 persons per million per year. Hemolytic anemia, thrombocytopenia, and end-organ damage due to the formation of microthrombi are characteristic of TTP. ADAMTS13 is a disintegrin, metalloproteinase, cleaving protein of von Willebrand factor (VWF) that processes the VWF multimers to prevent them from interacting with platelets and, in turn, to microvascular thrombosis. Prompt diagnosis of TTP is critical yet challenging. Thrombotic microangiopathies have similar clinical presentation. Measurement of ADAMTS13 activity helps in the differential diagnosis. Less than 10% ADAMTS13 activity is indicative of TTP. Laboratory ADAMTS13 activity assays include incubating the test plasma with the substrate (full-length VWM multimers) and detection with direct or indirect measurement of the cleavage product. The purpose of this study is to examine the diagnostic potential, advantages, and weaknesses of the ADAMTS13 potency in TTP. Full article

A male in his 60s presented with left lower extremity fractures following a vehicle accident. Hemoglobin, initially, was 12.4 mmol/L, and platelet count was 235 k/mcl. On day 11 of admission, his platelet count initially dropped to 99 k/mcl, and after recovery it rapidly decreased to 11 k/mcl on day 16 when the INR was 1.3 and aPTT was 32 s, and he continued to have a stable anemia throughout admission. There was no response in platelet count post-transfusion of four units of platelets. Hematology initially evaluated the patient for disseminated intravascular coagulation, heparin-induced thrombocytopenia (anti-PF4 antibody was 0.19), and thrombotic thrombocytopenic purpura (PLASMIC score of 4). Vancomycin was administered on days 1–7 for broad spectrum antimicrobial coverage and day 10, again, for concerns of sepsis. Given the temporal association of thrombocytopenia and vancomycin administration, a diagnosis of vancomycin-induced immune thrombocytopenia was established. Vancomycin was discontinued, and 2 doses of 1000 mg/kg of intravenous immunoglobulin 24 h apart were administered with the subsequent resolution of thrombocytopenia. Full article